BUD23( Human )

Entrez Gene 114049 Entrez Gene 114049
BUD23, rRNA methyltransferase and ribosome maturation factor

Alias

HASJ4442|HUSSY-3|MERM1|PP3381|WBMT|WBSCR22

This gene encodes a protein containing a nuclear localization signal and an S-adenosyl-L-methionine binding motif typical of methyltransferases, suggesting that the encoded protein may act on DNA methylation. This gene is deleted in Williams syndrome, a multisystem developmental disorder caused by the deletion of contiguous genes at 7q11.23. Alternatively spliced transcript variants have been found. [provided by RefSeq, Feb 2011].

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